Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P18074: Variant p.Leu461Val

General transcription and DNA repair factor IIH helicase subunit XPD
Gene: ERCC2
Feedback?
Variant information Variant position: help 461 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Leucine (L) to Valine (V) at position 461 (L461V, p.Leu461Val). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In XP-D and TTD1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 461 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 760 The length of the canonical sequence.
Location on the sequence: help SLAIKPVFERFQSVIITSGT L SPLDIYPKILDFHPVTMATF The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         SLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMATF

Mouse                         SLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMATF

Bovine                        SLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMATF

Slime mold                    SIGMKPIFDKYRSVVITSGTLSPLDIYTKMLNFRPTVVERL
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 1 – 760 General transcription and DNA repair factor IIH helicase subunit XPD
Region 438 – 637 Mediates interaction with MMS19
Alternative sequence 430 – 760 Missing. In isoform 2.



Literature citations
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
Frederick G.D.; Amirkhan R.H.; Schultz R.A.; Friedberg E.C.;
Hum. Mol. Genet. 3:1783-1788(1994)
Cited for: VARIANT XP-D VAL-461; DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.
Takayama K.; Danks D.M.; Salazar E.P.; Cleaver J.E.; Weber C.A.;
Hum. Mutat. 9:519-525(1997)
Cited for: VARIANTS TTD1 VAL-461; 716-VAL--ARG-730 DEL AND PRO-725; Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.
Botta E.; Nardo T.; Broughton B.C.; Marinoni S.; Lehmann A.R.; Stefanini M.;
Am. J. Hum. Genet. 63:1036-1048(1998)
Cited for: VARIANTS TTD1 HIS-112; TYR-259; VAL-461; THR-482 DEL; GLY-673 AND TRP-722;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.